Table 3.

Recommendations for management and follow-up in MALNS adulthood

Type of evaluation	Evaluation, frequency, and follow-up from Macchiaiolo et al. [7]	Evaluation, frequency, and follow-up in adulthood
Auxological evaluation	Annual evaluation of weight, height, head circumference. Calculate BMI-SDS and calories intake	Continue annual evaluation in adulthood Pay attention to weight gain in case of psychotropic drug therapy Refer to nutritionist in case of (risk of) underweight
Orthopedic evaluation	Evaluate spine curvature, body length discrepancies, flat feet. at diagnosis, then evaluate annually until puberty Accurate anamnesis for bone fractures. Consider DXA	Continue annual evaluation in adulthood Consider evaluation of bone mineral density with DXA-scan
Ophthalmologic evaluation	Search for refractive errors, nystagmus, strabismus, cataract, and optic disk pallor at diagnosis, and then annually until puberty	Continue annual evaluation and eye examination in adulthood Be aware of optic nerve atrophy and early-onset cataracts Refer to appropriate services as early as possible for assistive devices
Psychobehavioral evaluation	Perform neuropsychiatric and behavior evaluation at diagnosis, then on neuropsychiatric indication	Annual behavior evaluation. On neuropsychiatric indication, consider psychotropic drugs and side effects Continue follow-up in all patients by specialized practitioners (psychologist, psychiatrist, behavioral specialist) Consider secondary causes of changed behavior: constipation and sleep problems
Cardiological evaluation	At diagnosis, refer to pediatrician for periodic clinical evaluation	General practitioner monitors blood pressure and performs physical examination annually Annual or biennial evaluation by cardiologist with repeat echocardiogram as needed for aortic dilatation
Neurological evaluation	If EEG aspecific anomalies alone are detected: watch and wait strategy. Patients with microdeletions consider closer follow-up	Periodic evaluation by neurologist as needed Consider more frequent follow-up in adulthood due to possible late manifestations of seizures regardless of type of mutation or microdeletions
Gastrointestinal evaluation	Look for constipation and treat it	Annual or twice a year evaluation
Urological evaluation	–	Evaluate toileting habits, paying attention to incontinence
Sleep evaluation	–	Pay attention to sleep health and sleep disorders (sleep apnea)
Cancer surveillance	No evidence for strict surveillance	Cancer surveillance as recommended by local adult guidelines (breast, cervical and colon)